Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.
Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.
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出生缺陷与非综合性胃胃静脉曲张和圆环融合共发生。
DOI：
10.1002/ajmg.a.61830
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发表时间：
2020-11
期刊：
影响因子：
--
通讯作者：
Agopian AJ
中科院分区：
文献类型：
--
作者：
Oluwafemi OO;Benjamin RH;Navarro Sanchez ML;Scheuerle AE;Schaaf CP;Mitchell LE;Langlois PH;Canfield MA;Swartz MD;Scott DA;Northrup H;Ray JW;McLean SD;Ludorf KL;Chen H;Lupo PJ;Agopian AJ
腹裂和脐膨出是两种最常见的腹壁出生缺陷，作为综合征的一部分，流行病学特征和发生频率表明这两种缺陷之间存在不同的病因。我们使用德克萨斯州出生缺陷登记处分别评估了这些缺陷共同发生的复杂模式。我们使用共现缺陷分析（CODA）来计算所有观察到的出生缺陷模式的调整后的预期（O/E）比。有2,998例非综合征（即，未确定记录的综合征诊断）腹裂病例，其中789例（26%）有其他合并缺陷。有720例非综合征性脐膨出病例，404例（56%）有额外的共同发生的缺陷。在腹裂的前30个经调整的O/E比值中，大多数共同发生的缺陷与胃肠道系统有关，尽管也存在心血管和肾脏异常。与脐膨出同时发生的前30种组合中，有几种似乎提示OEIS（脐膨出、泄殖腔外翻、无肛、脊柱缺损）复合体。在事后敏感性分析中排除具有提示OEIS特征的额外病例后，涉及与OEIS相关的缺陷的最高组合（例如，脊柱裂）不再存在。其余涉及脐膨出的最常见合并症包括心血管、胃肠道和泌尿生殖系统缺陷。总之，我们使用一种新型软件平台确定了与腹裂和脐膨出共同发生的频率高于预期的复杂缺陷模式。更好地理解腹裂和脐膨出之间模式的差异可能会导致更多的病因学见解。
Gastroschisis and omphalocele are the two most common abdominal wall birth defects, and epidemiologic characteristics and frequency of occurrence as part of a syndromic condition suggest distinct etiologies between the two defects. We assessed complex patterns of defect co-occurrence with these defects separately using the Texas Birth Defects Registry. We used co-occurring defect analysis (CODA) to compute adjusted observed-to-expected (O/E) ratios for all observed birth defect patterns. There were 2,998 non-syndromic (i.e., no documented syndrome diagnosis identified) cases with gastroschisis and 789 (26%) of these had additional co-occurring defects. There were 720 non-syndromic cases with omphalocele, and 404 (56%) had additional co-occurring defects. Among the top 30 adjusted O/E ratios for gastroschisis, most of the co-occurring defects were related to the gastrointestinal system, though cardiovascular and kidney anomalies were also present. Several of the top 30 combinations co-occurring with omphalocele appeared suggestive of OEIS (omphalocele, exstrophy of cloaca, imperforate anus, spinal defects) complex. After the exclusion of additional cases with features suggestive of OEIS in a post-hoc sensitivity analysis, the top combinations involving defects associated with OEIS (e.g., spina bifida) were no longer present. The remaining top combinations involving omphalocele included cardiovascular, gastrointestinal, and urogenital defects. In summary, we identified complex patterns of defects that co-occurred more frequently than expected with gastroschisis and omphalocele using a novel software platform. Better understanding differences in the patterns between gastroschisis and omphalocele could lead to additional etiologic insights.
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影响因子：
3.1
作者：
Ledbetter, DJ
通讯作者：
Ledbetter, DJ
DOI：
10.1002/ajmg.1320580218
发表时间：
1995-08-28
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
CALZOLARI, E;BIANCHI, F;STONE, DH
通讯作者：
STONE, DH
影响因子：
2.9
作者：
Allman, R.;Sousa, J.;Clark, R. H.
通讯作者：
Clark, R. H.
影响因子：
9
作者：
FORD, EG;SENAC, MO;WEITZMAN, JJ
通讯作者：
WEITZMAN, JJ
DOI：
10.1002/ajmg.1320370213
发表时间：
1990-10-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
KHOURY, MJ;JAMES, LM;ERICKSON, JD
通讯作者：
ERICKSON, JD